Juvenile myoclonic epilepsy

Juvenile myoclonus epilepsy (JME) is a common epileptic syndrome, the etiology of which is genetically determined. Its onset occurs from 6 through 22 years of age, and affected patients present with myoclonic jerks, often associated with generalized tonic-clonic seizures - the most common association - and absence seizures. JME is non-progressive, and there are no abnormalities on clinical examination or intellectual deficits. Psychiatric disorders may coexist. Generalized polyspike-and-waves are the most characteristic electroencephalographic pattern. Usual neuroimaging studies show no abnormalities. Atypical presentations should be entertained, as they are likely to induce misdiagnosis. Prevention of precipitating factors and therapy with valproic acid (VPA) are able to control seizures in the great majority of patients. Whenever VPA is judged to be inappropriate, other antiepileptic drugs such as lamotrigine may be considered. Treatment should not be withdrawn, otherwise recurrences are frequent.

A epilepsia mioclônica juvenil é uma síndrome epiléptica comum, cuja etiologia é fundamentada na genética. Inicia-se entre 6 e 22 anos e os indivíduos apresentam mioclonias, que podem ser acompanhadas por crises tônico-clônicas generalizadas - associação mais comum - e crises de ausência. A doença não é progressiva, e não há alterações detectáveis no exame físico ou déficits intelectuais. Distúrbios psiquiátricos podem coexistir. Polipontas-ondas lentas generalizadas constituem o padrão eletrencefalográfico ictal típico. Não há anormalidades em exames de imagem convencionais. Apresentações atípicas devem ser consideradas, pois predispõem a erros de diagnóstico. A prevenção de fatores desencadeantes e o uso de ácido valpróico (VPA) controlam as crises epilépticas na grande maioria dos casos. Quando o VPA é inapropriado, outras drogas como a lamotrigina podem ser utilizadas. O tratamento não deve ser interrompido, visto que as recidivas são freqüentes.

Epilepsia mioclónica juvenil: benigna y crónica / Juvenile myoclonic epilepsy: bening and chronic

La epilepsia mioclónica juvenil representa el 4,3-10,7% de todas las epilepsias y se manifiesta en la segunda década de lavida. Es de base genética con el locus en el cromosoma 6p. El curso es benigno, no afecta el área cognitiva.El tratamiento es fármaco dependiente (crónico) y tiene períodosde remisión prolongados. Los EEG suelen presentar alteraciones persistentes. En los tres pacientes presentados la duración del tratamiento(durante el período de seguimiento) fue 11, 15 y 16 años. Las drogas de elección fueron ácido valproico y lamotrigina.Palabras clave: epilepsia mioclónica juvenil, tratamiento crónico,cognición normal.

Comparison of valporic acid efficacy in familial versus sporadic cases of juvenile myoclonic epilepsy.

BACKGROUND: Juvenile myoclonic epilepsy is a heterogeneous syndrome, both in genetic and clinical aspects. AIMS: This study was conducted to compare the efficacy of valproic acid in familial versus sporadic cases of this syndrome. SETTINGS AND DESIGN: Seventy patients with JME were identified; 24 patients (34.3%) had positive history of JME in their first degree relatives (group I) and 46 patients (65.7%) were sporadic (group II). MATERIALS AND METHODS: Valproic acid was started for the patients with upward titration. The cases were followed for one year after final titration of the drug with regular blood monitoring. Patients, who had no myoclonic, absence and grand mal seizures within one year, were considered excellent responders. STATISTICAL ANALYSIS: We used Student T-test and Fisher's exact test for quantitative and qualitative variables respectively. Logistic Regression test was used to evaluate the predictive factors for final treatment outcomes. RESULTS: Mean dosage of valproic acid was 800 mg/d in both groups (13 mg/kg and 12.4 mg/kg respectively). Mean therapeutic levels of the drug in group I and II were 74 microg/ml and 78.4 microg/ml respectively. Excellent responders' rate was 66.7% in group I and 76.1% in group II. History of absences and older age at the onset of grand mal seizures decreased excellent responders' rate in both groups. CONCLUSIONS: Considering response to valproic acid, there is no significant difference in familial versus sporadic cases of JME, whereas history of absences and older age at the onset of grandmal seizures, decrease the probability of being excellent responders in this syndrome.

Topiramate for the treatment of juvenile myoclonic epilepsy

OBJECTIVE: The aim of this study was to evaluate the efficacy and tolerability of topiramate (TPM) in juvenile myoclonic epilepsy (JME). METHOD: We assessed seizure control and adverse effects of TPM in 22 patients (18 females) aged 13 to 53 years. Target TPM dosage was up to 200 mg/day. The patients were subdivided into 3 groups: those treated with seizure control plus side effects (n=4); treated with non-controlled seizures (n=15) and with JME newly diagnosed (n=3). RESULTS: Sixteen patients completed the first year of the follow-up. Generalized tonic-clonic seizures were completely controlled in 10 (62.5%); more than 50% of reduction in 4 (25.0%) and less than 50% in 2 (12.5%). Myoclonia were controlled in 11 (68.8%) and persisted in 5 (31.2%) patients. Absence seizures were present in 5 (22.7%) of whom 2 (9.0%) showed more than 50% of seizure reduction while 3 (13.6%) presented worsening. Discontinuations were due to inadequate seizure control and adverse events (N=4), low compliance and loss of follow-up (N=2) and subject choice (N=1). CONCLUSION: TPM showed to be an effective and well-tolerated drug in the treatment of JME. Although frequently observed, TPM side effects were tolerable and the drug could be maintained in the majority of patients.

OBJETIVO: Avaliar a eficácia e tolerabilidade do topiramato (TPM) na epilepsia mioclônica juvenil (EMJ). MÉTODO: Avaliamos a resposta terapêutica e efeitos colaterais do TPM em 22 pacientes (18 mulheres) com idades entre 13 e 53 anos. A dose alvo utilizada foi até 200 mg/dia. Os pacientes foram divididos em 3 grupos no início do tratamento: aqueles com controle das crises mas que apresentavam efeitos colaterais (n=4); com crises não controladas (n=15) e com EMJ recém diagnosticada (n=3). RESULTADOS: Dezesseis pacientes completaram o primeiro ano de acompanhamento. Crises tônico-clonicas generalizadas foram completamente controladas em 10 (62,5%), tiveram redução maior de 50% em 4 (25,0%) e menor de 50% em 2 (12,5%). Mioclonias foram controladas em 11 (68,8%) e persistiram em 5 (31.2%) pacientes. As crises de ausências, presentes em 5 (22,7%) pacientes, tiveram redução maior do que 50% em 2 (9,0%) e agravamento em 3 (13,6%). A retirada do estudo foi devida principalmente ao controle inadequado das crises e efeitos colaterais indesejáveis (n=4), pouca adesão e perda do seguimento (n=2) e escolha do paciente (n=1). CONCLUSÃO: TPM foi considerada droga eficaz e bem tolerada no tratamento da EMJ. Apesar de freqüentemente observados, os efeitos colaterais do TPM foram toleráveis e a medicação pode ser mantida na maioria dos pacientes.

Topiramate in the treatment of myoclonic-astatic epilepsy in children: a retrospective hospital audit.

BACKGROUND: Myoclonic-Astatic Epilepsy (MAE) usually starts before five years of age and is associated with very frequent seizures and is highly resistant to treatment. AIM: To investigate the outcome of adjunctive topiramate (TPM) therapy in children with a diagnosis of MAE syndrome. SUBJECTS AND METHODS: In an outpatient setting, case notes of 27 children who received TPM were retrieved and analysed. RESULTS: Records of 6 children with MAE, who were experiencing 2-8 atonic seizures daily before starting TPM were studied. Improvement was noted after addition of TPM (mean dose at steady-state 7.4+/-2.5mg/kg/day) to the regimen of 1-3 anti-epileptic drugs they were receiving concurrently. All but one child improved following the titration period: one had 50-80% improvement in the frequency of atonic seizures and three had over 80% improvement. However, one child who showed over 80% improvement and was free of atonic seizures, later developed increased frequency of other seizure types. In one child there was no significant improvement. Improvement has been sustained for over 6 months in three patients and over 4 months in one; three have continued TPM. TPM was stopped in three patients (reduction in seizure control/no improvement). CONCLUSIONS: This study supports the efficacy of TPM in controlling atonic seizures in MAE and indicates that it should be considered as an add-on drug in the management of this 'difficult-to-treat' epileptic syndrome.